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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
人类
B3GNT3 - UDP-GlcNAc:betaGal Beta-1,3-N-acetylglucosaminyltransferase 3
Alias:
TMEM3
B3GN-T3
B3GNT-3
HP10328
B3GAL-T8
beta3Gn-T3
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码β-1,3-N-乙酰葡萄糖胺转移酶家族的一员。这种酶是一种II型跨膜蛋白,包含一个未被切割的信号锚。它更喜欢乳糖-N-四糖和乳糖-N-新四糖作为底物,并参与聚-N-乙酰乳糖胺链的生物合成和二聚唾液酸Lewis a骨架结构的形成。它在L-选择素配体生物合成、淋巴细胞归巢和淋巴细胞转运中起着主导作用。[由RefSeq,2008年7月提供]
Related ID:
NCBI:10331
ENSEMBL:ENSG00000179913
HGNC:13528
UNIPROT:Q9Y2A9
OMIM:605863
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
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Reference
10331
3
3
18786 bp
42.53
15
--
3
9
B3GNT3 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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* This data comes from NCBI.
Gene Expression
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